Incidental Mutation 'R5477:Lats2'
| ID |
434131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lats2
|
| Ensembl Gene |
ENSMUSG00000021959 |
| Gene Name |
large tumor suppressor 2 |
| Synonyms |
|
| MMRRC Submission |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5477 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57937010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 113
(D113G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022531]
[ENSMUST00000173964]
[ENSMUST00000173990]
[ENSMUST00000174166]
[ENSMUST00000174213]
[ENSMUST00000174694]
|
| AlphaFold |
Q7TSJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022531
AA Change: D493G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959
AA Change: D493G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COS|A
|
91 |
138 |
3e-20 |
PDB |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
S_TKc
|
626 |
931 |
2.94e-94 |
SMART |
|
S_TK_X
|
932 |
1002 |
1.21e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173964
AA Change: D113G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000134142
Gene: ENSMUSG00000021959
AA Change: D113G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
149 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
233 |
288 |
2.3e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173990
AA Change: D493G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133976
Gene: ENSMUSG00000021959
AA Change: D493G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COS|A
|
91 |
138 |
8e-22 |
PDB |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
S_TKc
|
626 |
893 |
7.75e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174166
|
| SMART Domains |
Protein: ENSMUSP00000133379
Gene: ENSMUSG00000021959
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COS|A
|
91 |
114 |
5e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174213
|
| SMART Domains |
Protein: ENSMUSP00000134321
Gene: ENSMUSG00000021959
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COS|A
|
91 |
114 |
2e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174694
AA Change: D493G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942
AA Change: D493G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COS|A
|
91 |
138 |
7e-22 |
PDB |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
626 |
792 |
2.2e-38 |
PFAM |
|
Pfam:Pkinase_Tyr
|
626 |
795 |
2.8e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with decreased cell proliferation, chromosomal instability, atrial hyperplasia, ventricular hypoplasia, delayed embryonic development, an irregular kinked neural tube, and hemorrhages. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
probably damaging |
Het |
|
| Other mutations in Lats2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Lats2
|
APN |
14 |
57,929,026 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02104:Lats2
|
APN |
14 |
57,971,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02173:Lats2
|
APN |
14 |
57,934,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Lats2
|
APN |
14 |
57,929,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02995:Lats2
|
APN |
14 |
57,937,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Morpheus
|
UTSW |
14 |
57,933,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Lats2
|
UTSW |
14 |
57,936,814 (GRCm39) |
nonsense |
probably null |
|
|
R0653:Lats2
|
UTSW |
14 |
57,937,653 (GRCm39) |
nonsense |
probably null |
|
|
R0780:Lats2
|
UTSW |
14 |
57,928,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1129:Lats2
|
UTSW |
14 |
57,937,790 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1851:Lats2
|
UTSW |
14 |
57,934,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Lats2
|
UTSW |
14 |
57,934,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Lats2
|
UTSW |
14 |
57,929,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3498:Lats2
|
UTSW |
14 |
57,959,923 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3692:Lats2
|
UTSW |
14 |
57,928,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Lats2
|
UTSW |
14 |
57,933,712 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4357:Lats2
|
UTSW |
14 |
57,936,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Lats2
|
UTSW |
14 |
57,937,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Lats2
|
UTSW |
14 |
57,928,810 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5729:Lats2
|
UTSW |
14 |
57,960,192 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5802:Lats2
|
UTSW |
14 |
57,931,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5931:Lats2
|
UTSW |
14 |
57,933,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6016:Lats2
|
UTSW |
14 |
57,971,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Lats2
|
UTSW |
14 |
57,959,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6624:Lats2
|
UTSW |
14 |
57,931,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6638:Lats2
|
UTSW |
14 |
57,936,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Lats2
|
UTSW |
14 |
57,933,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Lats2
|
UTSW |
14 |
57,934,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Lats2
|
UTSW |
14 |
57,960,151 (GRCm39) |
splice site |
probably null |
|
|
R7883:Lats2
|
UTSW |
14 |
57,934,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Lats2
|
UTSW |
14 |
57,937,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Lats2
|
UTSW |
14 |
57,934,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:Lats2
|
UTSW |
14 |
57,960,162 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8536:Lats2
|
UTSW |
14 |
57,940,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8767:Lats2
|
UTSW |
14 |
57,931,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9579:Lats2
|
UTSW |
14 |
57,937,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Lats2
|
UTSW |
14 |
57,936,875 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTTGATGCGAGACTCTCTC -3'
(R):5'- TCACCCTGTGAAGAGCGTG -3'
Sequencing Primer
(F):5'- GATGCGAGACTCTCTCTTCTC -3'
(R):5'- GAAGAGCGTGCGTGTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation